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Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.

The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygot...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Bernasconi, S, Pezzani, C, Balestrazzi, P, Marbini, A
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 1978
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013681/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/671487/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.3.219
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